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Variant (rsID / SNP)

rs113994129

AGL

rs113994129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,346,885. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AGLPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:100346885
Cytoband
1p21.2
HGVS
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
Allele change
Nonsense_W680X

Associated conditions / phenotypes

Glycogen storage disease IIIb|Glycogen storage disease type III

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.